Rare Infectious Disease News

Disease Profile

Rienhoff syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Aortic regurgitation
0001659
Brachycephaly
Short and broad skull
0000248
Broad face
Increased breadth of face
Increased width of face
Wide face

[ more ]

0000283
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Cerebral hemorrhage
Bleeding in brain
0001342
Cervical spine instability
0010646
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Motor delay
0001270
Osteoarthritis
Degenerative joint disease
0002758
Patent foramen ovale
0001655
Ptosis
Drooping upper eyelid
0000508
Smooth philtrum
0000319
Spondylolisthesis
Displacement of one backbone compared to another
Slipped backbone

[ more ]

0003302
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
1%-4% of people have these symptoms
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Ascending aortic dissection
0004933
Bifid uvula
0000193
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Kyphoscoliosis
0002751
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Tall stature
Increased body height
0000098
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bilateral coxa valga
0010665
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Decreased muscle mass
0003199
Eosinophilic infiltration of the esophagus
0410151
Exotropia
Outward facing eye ball
0000577
Hiatus hernia
Stomach hernia
0002036
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Increased arm span
0012771
Inguinal hernia
0000023
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints

[ more ]

0001382
Mitral regurgitation
0001653
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Pectus carinatum
Pigeon chest
0000768
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rienhoff syndrome. Click on the link to view a sample search on this topic.